Linked Data
dbSNP Id:
rs1449888930
gnomAD v2:
X-50378606-A-G
gnomAD v3:
X-50635606-A-G
gnomAD v4:
X-50635606-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50635606A>G , CM000685.2:g.50635606A>G | GRCh38 |
| NC_000023.10:g.50378606A>G , CM000685.1:g.50378606A>G | GRCh37 |
| NC_000023.9:g.50395346A>G | NCBI36 |
| NG_011882.1:g.183439T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376020.9:c.467T>C MANE Select | ENSP00000365188.2:p.Ile156Thr | |
| ENST00000376020.8:c.467T>C | ENSP00000365188.2:p.Ile156Thr | |
| ENST00000289292.11:c.467T>C | ENSP00000289292.7:p.Ile156Thr | |
| ENST00000376020.6:c.467T>C | ENSP00000365188.2:p.Ile156Thr | |
| ENST00000460112.3:c.119T>C | ENSP00000421450.1:p.Ile40Thr | |
| NM_020717.3:c.467T>C | NP_065768.2:p.Ile156Thr | |
| NR_027121.1:n.493T>C | ||
| XM_006724590.2:c.119T>C | XP_006724653.1:p.Ile40Thr | |
| XM_006724591.2:c.-8T>C | XP_006724654.1:n.-8T>C | |
| XM_011530800.1:c.332T>C | XP_011529102.1:p.Ile111Thr | |
| XM_011530801.1:c.467T>C | XP_011529103.1:p.Ile156Thr | |
| XR_938367.1:n.585T>C | ||
| XR_938368.1:n.585T>C | ||
| XM_017029682.2:c.467T>C | XP_016885171.1:p.Ile156Thr | |
| XM_017029683.1:c.332T>C | XP_016885172.1:p.Ile111Thr | |
| XM_017029684.1:c.119T>C | XP_016885173.1:p.Ile40Thr | |
| XM_017029685.2:c.467T>C | XP_016885174.1:p.Ile156Thr | |
| XM_017029686.1:c.-8T>C | XP_016885175.1:n.-8T>C | |
| XM_017029687.2:c.467T>C | XP_016885176.1:p.Ile156Thr | |
| XR_001755716.2:n.598T>C | ||
| XR_001755717.2:n.598T>C | ||
| XR_001755718.2:n.598T>C | ||
| NM_020717.5:c.467T>C MANE Select | NP_065768.2:p.Ile156Thr | |
| NR_027121.3:n.643T>C | ||
| NR_172068.1:n.508T>C | ||
| NR_172069.1:n.563T>C | ||
| NR_172070.1:n.428T>C |